期刊
CELL REPORTS
卷 1, 期 1, 页码 2-12出版社
CELL PRESS
DOI: 10.1016/j.celrep.2011.11.001
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资金
- Dystonia Medical Research Foundation
- Bachmann-Strauss Dystonia Parkinson Foundation, NIH [NS043533, U54 RR19481]
- Sandler Neurogenetics Fund
- ANR (grant EPILAND)
- INSERM
- MRC [G108/638, G0601943, G0802760, G1001253] Funding Source: UKRI
- Medical Research Council [G0601943, G108/638, G0802760, G1001253] Funding Source: researchfish
- Parkinson"
- s UK [G-1107] Funding Source: researchfish
- NATIONAL CENTER FOR RESEARCH RESOURCES [UL1RR025764] Funding Source: NIH RePORTER
- NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE [R01NS043533] Funding Source: NIH RePORTER
Paroxysmal kinesigenic dyskinesia with infantile convulsions (PKD/IC) is an episodic movement disorder with autosomal-dominant inheritance and high penetrance, but the causative genetic mutation is unknown. We have now identified four truncating mutations involving the gene PRRT2 in the vast majority (24/25) of well-characterized families with PKD/IC. PRRT2 truncating mutations were also detected in 28 of 78 additional families. PRRT2 encodes a proline-rich transmembrane protein of unknown function that has been reported to interact with the t-SNARE, SNAP25. PRRT2 localizes to axons but not to dendritic processes in primary neuronal culture, and mutants associated with PKD/IC lead to dramatically reduced PRRT2 levels, leading ultimately to neuronal hyperexcitability that manifests in vivo as PKD/IC.
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